ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4189dup (p.His1397fs)

dbSNP: rs2082644891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233673 SCV001406278 pathogenic Ataxia-telangiectasia syndrome 2019-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His1397Profs*2) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002327562 SCV002628515 pathogenic Hereditary cancer-predisposing syndrome 2020-01-04 criteria provided, single submitter clinical testing The c.4189dupC pathogenic mutation, located in coding exon 27 of the ATM gene, results from a duplication of C at nucleotide position 4189, causing a translational frameshift with a predicted alternate stop codon (p.H1397Pfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV004033208 SCV004930724 pathogenic Familial cancer of breast 2024-01-23 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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